NUDCD3

NudC Domain Containing 3

Gene Information Card

Symbol NUDCD3
Full Name NudC Domain Containing 3
Gene Type Protein coding
Chromosomal Location 7p13
NCBI Gene ID 23386 ncbi.nlm.nih.gov/gene/23386
Ensembl ID ENSG00000105971
UniProt ID Q8IVD9
OMIM ID 610385
HGNC ID 22223
Aliases NUDCD3, C7orf30, NudCL3

Description

NUDCD3 (NudC Domain Containing 3) is a protein-coding gene that encodes a member of the NudC family of proteins. The protein is involved in cell cycle regulation, particularly in mitotic spindle organization and cytokinesis. It interacts with dynein and dynactin complexes to facilitate proper chromosome segregation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association reported Not applicable Not applicable

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 15.2 Medium
Lymph node 12.8 Medium
Bone marrow 11.5 Medium
Spleen 10.9 Medium
Brain 8.3 Low
Cell Line Expression
Cell Line nTPM Notes
K-562 14.1 Leukemia cell line
HeLa 12.5 Cervical carcinoma
HEK 293 11.0 Embryonic kidney
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1015C>T (p.Arg339Trp) Missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

Not established

Gain of Function (GOF)

Not established

Dominant Negative (DN)

Not established

Gene Ontology (GO)

• cell division • mitotic spindle organization
• cytokinesis • protein binding
• dynein complex binding

Pathways

• Cell Cycle
• Mitotic
• Resolution of Sister Chromatid Cohesion

Protein Summary

The NUDCD3 protein is 546 amino acids long and contains a NudC domain. It localizes to the centrosome and spindle poles during mitosis, where it regulates dynein-mediated transport and ensures accurate chromosome segregation.

Related Products

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